chr21:31659806:G>C Detail (hg38) (SOD1, SOD1-DT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,032,119-33,032,119 View the variant detail on this assembly version. |
| hg38 | chr21:31,659,806-31,659,806 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.37G>C | NP_000445.1:p.Gly13Arg |
| Ensemble | ENST00000270142.11:c.37G>C | ENST00000270142.11:p.Gly13Arg |
| ENST00000389995.4:c.15+22G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2020-12-15 | criteria provided, single submitter | amyotrophic lateral sclerosis type 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | CLINVAR | Detail | |
| <0.001 | Progressive cGVHD | In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a ne... | BeFree | 15789135 | Detail |
| 0.002 | Impaired cognition | In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a ne... | BeFree | 15789135 | Detail |
| <0.001 | Progressive Neoplastic Disease | In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a ne... | BeFree | 15789135 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.37G>C (p.Gly13Arg) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense muta... | DisGeNET | Detail |
| In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense muta... | DisGeNET | Detail |
| In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense muta... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs121912456 dbSNP
- Genome
- hg38
- Position
- chr21:31,659,806-31,659,806
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser